OBJECTIVES: In adults with unexplained pancreatitis, the yield of complete gene versus select exosome sequencing on mutation detection and distinguishing clinical characteristics associated with mutations requires clarification. We sought to (1) compare frequency of mutations identified using different techniques and (2) compare clinical characteristics between adults with and without mutations. METHODS: This is a cohort study of adults with unexplained pancreatitis who underwent genetic testing between January 2008 and December 2012. We compare probabilities of having a positive mutation with complete gene sequencing versus alternatives and describe differences in characteristics among patients with and without mutations. RESULTS: Of the 370 patients, 67 (18%) had a genetic mutation; 24 (6%) were of high risk. Mutations were significantly more prevalent with use of complete sequencing (42%) versus other approaches (8%, P < 0.0001). Most (44/67, 66%) with a mutation had no family history. Those with high-risk mutations were more likely to have a family history of chronic pancreatitis (21% vs 4%, P = 0.002). Patients with pancreas divisum were more likely to have mutations (27% vs 14%, P = 0.0007). CONCLUSION: Among individuals with adult-onset pancreatic disease, the probability of finding any mutation, including high risk, is significantly higher using complete gene sequencing. The impact on patients and providers requires further investigation.
OBJECTIVES: In adults with unexplained pancreatitis, the yield of complete gene versus select exosome sequencing on mutation detection and distinguishing clinical characteristics associated with mutations requires clarification. We sought to (1) compare frequency of mutations identified using different techniques and (2) compare clinical characteristics between adults with and without mutations. METHODS: This is a cohort study of adults with unexplained pancreatitis who underwent genetic testing between January 2008 and December 2012. We compare probabilities of having a positive mutation with complete gene sequencing versus alternatives and describe differences in characteristics among patients with and without mutations. RESULTS: Of the 370 patients, 67 (18%) had a genetic mutation; 24 (6%) were of high risk. Mutations were significantly more prevalent with use of complete sequencing (42%) versus other approaches (8%, P < 0.0001). Most (44/67, 66%) with a mutation had no family history. Those with high-risk mutations were more likely to have a family history of chronic pancreatitis (21% vs 4%, P = 0.002). Patients with pancreas divisum were more likely to have mutations (27% vs 14%, P = 0.0007). CONCLUSION: Among individuals with adult-onset pancreatic disease, the probability of finding any mutation, including high risk, is significantly higher using complete gene sequencing. The impact on patients and providers requires further investigation.
Authors: Marc F Catalano; Anand Sahai; Michael Levy; Joseph Romagnuolo; Maurits Wiersema; William Brugge; Martin Freeman; Kenji Yamao; Marcia Canto; Lyndon V Hernandez Journal: Gastrointest Endosc Date: 2009-02-24 Impact factor: 9.427
Authors: Niloofar Y Jalaly; Robert A Moran; Farshid Fargahi; Mouen A Khashab; Ayesha Kamal; Anne Marie Lennon; Christi Walsh; Martin A Makary; David C Whitcomb; Dhiraj Yadav; Liudmila Cebotaru; Vikesh K Singh Journal: Am J Gastroenterol Date: 2017-04-25 Impact factor: 10.864
Authors: Gregory A Coté; Valerie L Durkalski-Mauldin; Jose Serrano; Erin Klintworth; April W Williams; Zobeida Cruz-Monserrate; Mustafa Arain; James L Buxbaum; Darwin L Conwell; Evan L Fogel; Martin L Freeman; Timothy B Gardner; Erwin van Geenen; J Royce Groce; Sreenivasa S Jonnalagadda; Rajesh N Keswani; Shyam Menon; Dana C Moffatt; Georgios I Papachristou; Andrew Ross; Paul R Tarnasky; Andrew Y Wang; C Mel Wilcox; Frank Hamilton; Dhiraj Yadav Journal: Pancreas Date: 2019-09 Impact factor: 3.327
Authors: Joseph J Palermo; Tom K Lin; Lindsey Hornung; C Alexander Valencia; Abhinav Mathur; Kimberly Jackson; Lin Fei; Maisam Abu-El-Haija Journal: Pancreas Date: 2016-10 Impact factor: 3.327